COLGALT2 (collagen beta(1-O)galactosyltransferase 2) - Rat Genome Database

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Gene: COLGALT2 (collagen beta(1-O)galactosyltransferase 2) Homo sapiens
Analyze
Symbol: COLGALT2
Name: collagen beta(1-O)galactosyltransferase 2
RGD ID: 1602008
HGNC Page HGNC:16790
Description: Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf17; ColGalT 2; FLJ37771; FLJ37873; GLT25D2; glycosyltransferase 25 domain containing 2; glycosyltransferase 25 family member 2; hydroxylysine galactosyltransferase 2; KIAA0584; Procollagen galactosyltransferase; procollagen galactosyltransferase 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381183,929,662 - 184,037,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1183,929,854 - 184,037,729 (-)EnsemblGRCh38hg38GRCh38
GRCh371183,898,796 - 184,006,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361182,171,589 - 182,273,486 (-)NCBINCBI36Build 36hg18NCBI36
Celera1157,015,884 - 157,117,798 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1155,140,707 - 155,242,623 (-)NCBIHuRef
CHM1_11185,327,635 - 185,429,520 (-)NCBICHM1_1
T2T-CHM13v2.01183,289,012 - 183,400,897 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2283726   PMID:2341393   PMID:2649653   PMID:8218172   PMID:9628581   PMID:11318611   PMID:12477932   PMID:14702039   PMID:16344560   PMID:19075007   PMID:20189936   PMID:20379614  
PMID:20546612   PMID:21873635   PMID:22268729   PMID:23563607   PMID:25416956   PMID:26186194   PMID:28514442   PMID:29961565   PMID:30822656   PMID:31182584   PMID:32296183   PMID:33760386  
PMID:33783989   PMID:33961781   PMID:36215168   PMID:36538011   PMID:37208701   PMID:38777146  


Genomics

Comparative Map Data
COLGALT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381183,929,662 - 184,037,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1183,929,854 - 184,037,729 (-)EnsemblGRCh38hg38GRCh38
GRCh371183,898,796 - 184,006,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361182,171,589 - 182,273,486 (-)NCBINCBI36Build 36hg18NCBI36
Celera1157,015,884 - 157,117,798 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1155,140,707 - 155,242,623 (-)NCBIHuRef
CHM1_11185,327,635 - 185,429,520 (-)NCBICHM1_1
T2T-CHM13v2.01183,289,012 - 183,400,897 (-)NCBIT2T-CHM13v2.0
Colgalt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391152,275,485 - 152,386,942 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1152,275,581 - 152,386,446 (+)EnsemblGRCm39 Ensembl
GRCm381152,399,805 - 152,510,695 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1152,399,830 - 152,510,695 (+)EnsemblGRCm38mm10GRCm38
MGSCv371154,246,997 - 154,357,825 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361154,162,139 - 154,272,913 (+)NCBIMGSCv36mm8
Celera1154,823,094 - 154,930,941 (+)NCBICelera
Cytogenetic Map1G2NCBI
cM Map164.77NCBI
Colgalt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81367,073,551 - 67,178,194 (+)NCBIGRCr8
mRatBN7.21364,523,641 - 64,628,295 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1364,523,658 - 64,627,549 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01369,797,558 - 69,902,916 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1369,797,880 - 69,901,170 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01374,769,669 - 74,874,907 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41367,354,323 - 67,459,514 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11367,368,594 - 67,473,670 (+)NCBI
Celera1364,435,489 - 64,540,128 (+)NCBICelera
Cytogenetic Map13q21NCBI
Colgalt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540622,674,692 - 22,775,079 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540622,674,692 - 22,775,079 (-)NCBIChiLan1.0ChiLan1.0
COLGALT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2165,681,357 - 65,790,520 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,364,526 - 65,465,417 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01159,458,317 - 159,566,856 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11163,615,787 - 163,722,859 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1163,621,898 - 163,727,151 (-)Ensemblpanpan1.1panPan2
COLGALT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1717,242,951 - 17,342,562 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl717,245,555 - 17,343,067 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha716,828,930 - 16,944,454 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0716,975,757 - 17,091,912 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl716,943,746 - 17,078,092 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1716,883,772 - 16,999,299 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0716,992,419 - 17,108,055 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0717,123,409 - 17,239,005 (-)NCBIUU_Cfam_GSD_1.0
Colgalt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934488,078,880 - 88,172,792 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364815,925,629 - 6,019,835 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364815,925,635 - 6,019,541 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COLGALT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9125,148,753 - 125,291,057 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19125,149,806 - 125,291,092 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29137,479,988 - 137,611,367 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COLGALT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12545,318,249 - 45,435,939 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2545,331,893 - 45,434,429 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605546,549,857 - 46,653,676 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Colgalt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248149,631,442 - 9,737,254 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248149,631,386 - 9,736,701 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COLGALT2
69 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.3(chr1:183828804-184670837)x3 copy number gain See cases [RCV000051557] Chr1:183828804..184670837 [GRCh38]
Chr1:183797938..184639971 [GRCh37]
Chr1:182064561..182906594 [NCBI36]
Chr1:1q25.3
uncertain significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1
pathogenic
NM_015101.3(COLGALT2):c.1544C>T (p.Pro515Leu) single nucleotide variant Malignant melanoma [RCV000064377] Chr1:183940641 [GRCh38]
Chr1:183909775 [GRCh37]
Chr1:182176398 [NCBI36]
Chr1:1q25.3
not provided
NM_015101.3(COLGALT2):c.1491C>T (p.Thr497=) single nucleotide variant Malignant melanoma [RCV000064378] Chr1:183940694 [GRCh38]
Chr1:183909828 [GRCh37]
Chr1:182176451 [NCBI36]
Chr1:1q25.3
not provided
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q25.3(chr1:183892070-184122138)x3 copy number gain See cases [RCV000135919] Chr1:183892070..184122138 [GRCh38]
Chr1:183861204..184091272 [GRCh37]
Chr1:182127827..182357895 [NCBI36]
Chr1:1q25.3
benign
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 copy number gain See cases [RCV000448160] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3(chr1:183831183-184317727)x3 copy number gain See cases [RCV000447731] Chr1:183831183..184317727 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_015101.4(COLGALT2):c.1319G>A (p.Arg440His) single nucleotide variant not specified [RCV004282015] Chr1:183944274 [GRCh38]
Chr1:183913408 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1603G>A (p.Val535Ile) single nucleotide variant not specified [RCV004289475] Chr1:183940582 [GRCh38]
Chr1:183909716 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.767C>G (p.Pro256Arg) single nucleotide variant not specified [RCV004301711] Chr1:183969334 [GRCh38]
Chr1:183938468 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
GRCh37/hg19 1q25.3(chr1:183827844-184317756)x3 copy number gain not provided [RCV000684680] Chr1:183827844..184317756 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
GRCh37/hg19 1q25.3(chr1:183985203-184269036)x3 copy number gain not provided [RCV000749260] Chr1:183985203..184269036 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.3(chr1:183908612-183981164)x1 copy number loss not provided [RCV001005160] Chr1:183908612..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_015101.4(COLGALT2):c.812C>T (p.Ala271Val) single nucleotide variant not specified [RCV004304261] Chr1:183969289 [GRCh38]
Chr1:183938423 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.19G>T (p.Ala7Ser) single nucleotide variant not specified [RCV004288997] Chr1:184037339 [GRCh38]
Chr1:184006473 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_015101.4(COLGALT2):c.992T>G (p.Val331Gly) single nucleotide variant not specified [RCV004608303] Chr1:183954799 [GRCh38]
Chr1:183923933 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1051C>G (p.Arg351Gly) single nucleotide variant not specified [RCV004608304] Chr1:183951092 [GRCh38]
Chr1:183920226 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.959G>A (p.Arg320His) single nucleotide variant not specified [RCV004608305] Chr1:183954832 [GRCh38]
Chr1:183923966 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1784C>T (p.Ser595Phe) single nucleotide variant not specified [RCV004608306] Chr1:183938858 [GRCh38]
Chr1:183907992 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164) copy number gain not specified [RCV002053802] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1
pathogenic
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2
pathogenic
NM_015101.4(COLGALT2):c.1756G>A (p.Asp586Asn) single nucleotide variant not specified [RCV004224663] Chr1:183938886 [GRCh38]
Chr1:183908020 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1586T>C (p.Met529Thr) single nucleotide variant not specified [RCV004190993] Chr1:183940599 [GRCh38]
Chr1:183909733 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1208C>T (p.Ser403Phe) single nucleotide variant not specified [RCV004186000] Chr1:183945493 [GRCh38]
Chr1:183914627 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.655G>A (p.Val219Ile) single nucleotide variant not specified [RCV004098084] Chr1:183969446 [GRCh38]
Chr1:183938580 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3
pathogenic
NM_015101.4(COLGALT2):c.683G>C (p.Gly228Ala) single nucleotide variant not specified [RCV004212840] Chr1:183969418 [GRCh38]
Chr1:183938552 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.440T>C (p.Leu147Pro) single nucleotide variant not specified [RCV004148544] Chr1:183975149 [GRCh38]
Chr1:183944283 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1609G>A (p.Glu537Lys) single nucleotide variant not specified [RCV004196256] Chr1:183939033 [GRCh38]
Chr1:183908167 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1750G>A (p.Ala584Thr) single nucleotide variant not specified [RCV004181565] Chr1:183938892 [GRCh38]
Chr1:183908026 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.788C>T (p.Thr263Ile) single nucleotide variant not specified [RCV004197173] Chr1:183969313 [GRCh38]
Chr1:183938447 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.563T>C (p.Ile188Thr) single nucleotide variant not specified [RCV004073017] Chr1:183973680 [GRCh38]
Chr1:183942814 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.680C>T (p.Thr227Ile) single nucleotide variant not specified [RCV004201166] Chr1:183969421 [GRCh38]
Chr1:183938555 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.404A>G (p.His135Arg) single nucleotide variant not specified [RCV004121526] Chr1:183975185 [GRCh38]
Chr1:183944319 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.779A>G (p.Tyr260Cys) single nucleotide variant not specified [RCV004177957] Chr1:183969322 [GRCh38]
Chr1:183938456 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.149T>G (p.Leu50Arg) single nucleotide variant not specified [RCV004162813] Chr1:184037209 [GRCh38]
Chr1:184006343 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.539T>C (p.Leu180Pro) single nucleotide variant not specified [RCV004197725] Chr1:183973704 [GRCh38]
Chr1:183942838 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.208C>T (p.His70Tyr) single nucleotide variant not specified [RCV004144328] Chr1:184037150 [GRCh38]
Chr1:184006284 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.670T>C (p.Trp224Arg) single nucleotide variant not specified [RCV004104514] Chr1:183969431 [GRCh38]
Chr1:183938565 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.425C>T (p.Ala142Val) single nucleotide variant not specified [RCV004129494] Chr1:183975164 [GRCh38]
Chr1:183944298 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1852G>A (p.Asp618Asn) single nucleotide variant not specified [RCV004099539] Chr1:183938790 [GRCh38]
Chr1:183907924 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1787G>A (p.Arg596Gln) single nucleotide variant not specified [RCV004097297] Chr1:183938855 [GRCh38]
Chr1:183907989 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1408A>G (p.Arg470Gly) single nucleotide variant not specified [RCV004183132] Chr1:183940777 [GRCh38]
Chr1:183909911 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1195G>A (p.Asp399Asn) single nucleotide variant not specified [RCV004317631] Chr1:183945506 [GRCh38]
Chr1:183914640 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1115T>A (p.Ile372Asn) single nucleotide variant not specified [RCV004277972] Chr1:183951028 [GRCh38]
Chr1:183920162 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.697C>G (p.Pro233Ala) single nucleotide variant not specified [RCV004279341] Chr1:183969404 [GRCh38]
Chr1:183938538 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1474G>A (p.Asp492Asn) single nucleotide variant not specified [RCV004248098] Chr1:183940711 [GRCh38]
Chr1:183909845 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.392T>C (p.Ile131Thr) single nucleotide variant not specified [RCV004306672] Chr1:183975197 [GRCh38]
Chr1:183944331 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.118G>C (p.Glu40Gln) single nucleotide variant not specified [RCV004353190] Chr1:184037240 [GRCh38]
Chr1:184006374 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.41T>A (p.Leu14Gln) single nucleotide variant not specified [RCV004348729] Chr1:184037317 [GRCh38]
Chr1:184006451 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1278T>A (p.Asp426Glu) single nucleotide variant not specified [RCV004345565] Chr1:183944315 [GRCh38]
Chr1:183913449 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.994G>T (p.Val332Phe) single nucleotide variant not specified [RCV004356375] Chr1:183954797 [GRCh38]
Chr1:183923931 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1732T>C (p.Trp578Arg) single nucleotide variant not specified [RCV004362902] Chr1:183938910 [GRCh38]
Chr1:183908044 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1279C>G (p.Arg427Gly) single nucleotide variant not specified [RCV004437722] Chr1:183944314 [GRCh38]
Chr1:183913448 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1628A>G (p.Glu543Gly) single nucleotide variant not specified [RCV004437725] Chr1:183939014 [GRCh38]
Chr1:183908148 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1661C>A (p.Pro554His) single nucleotide variant not specified [RCV004437726] Chr1:183938981 [GRCh38]
Chr1:183908115 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.461C>A (p.Thr154Asn) single nucleotide variant not specified [RCV004437731] Chr1:183975128 [GRCh38]
Chr1:183944262 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.872A>G (p.Tyr291Cys) single nucleotide variant not specified [RCV004437735] Chr1:183963981 [GRCh38]
Chr1:183933115 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.217G>T (p.Gly73Cys) single nucleotide variant not specified [RCV004437729] Chr1:184037141 [GRCh38]
Chr1:184006275 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1252T>C (p.Tyr418His) single nucleotide variant not specified [RCV004437720] Chr1:183945449 [GRCh38]
Chr1:183914583 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1291A>C (p.Lys431Gln) single nucleotide variant not specified [RCV004437723] Chr1:183944302 [GRCh38]
Chr1:183913436 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1735G>A (p.Asp579Asn) single nucleotide variant not specified [RCV004437727] Chr1:183938907 [GRCh38]
Chr1:183908041 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.388G>A (p.Glu130Lys) single nucleotide variant not specified [RCV004437730] Chr1:183975201 [GRCh38]
Chr1:183944335 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.859G>C (p.Glu287Gln) single nucleotide variant not specified [RCV004437734] Chr1:183963994 [GRCh38]
Chr1:183933128 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1
pathogenic
NM_015101.4(COLGALT2):c.1523A>G (p.Gln508Arg) single nucleotide variant not specified [RCV004437724] Chr1:183940662 [GRCh38]
Chr1:183909796 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.575T>G (p.Met192Arg) single nucleotide variant not specified [RCV004437732] Chr1:183973668 [GRCh38]
Chr1:183942802 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.1808G>A (p.Ser603Asn) single nucleotide variant not specified [RCV004437728] Chr1:183938834 [GRCh38]
Chr1:183907968 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_015101.4(COLGALT2):c.808T>C (p.Phe270Leu) single nucleotide variant not specified [RCV004437733] Chr1:183969293 [GRCh38]
Chr1:183938427 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3(chr1:183917739-184192431)x3 copy number gain not provided [RCV001258488] Chr1:183917739..184192431 [GRCh37]
Chr1:1q25.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3199
Count of miRNA genes:928
Interacting mature miRNAs:1078
Transcripts:ENST00000361927, ENST00000367520, ENST00000367521, ENST00000486375, ENST00000546159
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597194136GWAS1290210_Hsexual dimorphism measurement QTL GWAS1290210 (human)5e-19sexual dimorphism measurement1184019883184019884Human
597077202GWAS1173276_Hheart rate variability measurement, response to antipsychotic drug QTL GWAS1173276 (human)0.000002heart rate variability measurement, response to antipsychotic drugheart rate variability (CMO:0002812)1184016669184016670Human
597583256GWAS1640116_Hbody height QTL GWAS1640116 (human)2e-50body height (VT:0001253)body height (CMO:0000106)1184037415184037416Human
596975518GWAS1095037_Hbody height QTL GWAS1095037 (human)9e-25body height (VT:0001253)body height (CMO:0000106)1184001260184001261Human
597336788GWAS1432862_HCOVID-19 QTL GWAS1432862 (human)0.000006COVID-191183971230183971231Human
597174742GWAS1270816_Hpreeclampsia QTL GWAS1270816 (human)0.00001preeclampsia1184014024184014025Human
597269195GWAS1365269_HBMI-adjusted waist circumference QTL GWAS1365269 (human)5e-09body size trait (VT:0100005)1184017830184017831Human
597307791GWAS1403865_Hbody height QTL GWAS1403865 (human)9e-25body height (VT:0001253)body height (CMO:0000106)1184001260184001261Human
597605771GWAS1662631_Hbody weight QTL GWAS1662631 (human)2e-18body mass (VT:0001259)body weight (CMO:0000012)1184037415184037416Human
597033614GWAS1129688_Hbody height QTL GWAS1129688 (human)4e-24body height (VT:0001253)body height (CMO:0000106)1184003894184003895Human
597342784GWAS1438858_HBack pain QTL GWAS1438858 (human)0.0000005Back pain1183974675183974676Human
597339398GWAS1435472_Hsexual dimorphism measurement QTL GWAS1435472 (human)2e-10sexual dimorphism measurement1184022771184022772Human
597254981GWAS1351055_HBMI-adjusted waist circumference QTL GWAS1351055 (human)5e-09body size trait (VT:0100005)1184036611184036612Human
597523139GWAS1619213_Hbody height QTL GWAS1619213 (human)1e-08body height (VT:0001253)body height (CMO:0000106)1183964364183964365Human
407019938GWAS668914_Hbody height QTL GWAS668914 (human)0.000007body height (VT:0001253)body height (CMO:0000106)1184033740184033741Human
597328185GWAS1424259_Hsexual dimorphism measurement QTL GWAS1424259 (human)3e-13sexual dimorphism measurement1184014584184014585Human
597330046GWAS1426120_Hsexual dimorphism measurement QTL GWAS1426120 (human)7e-10sexual dimorphism measurement1184021612184021613Human
597180798GWAS1276872_Hpyruvate measurement QTL GWAS1276872 (human)3e-11pyruvate measurementblood pyruvate level (CMO:0002422)1184026490184026491Human
597270513GWAS1366587_Hbody height QTL GWAS1366587 (human)1e-11body height (VT:0001253)body height (CMO:0000106)1184033740184033741Human
597266160GWAS1362234_HBMI-adjusted hip circumference QTL GWAS1362234 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1184022771184022772Human
597270514GWAS1366588_Hbody height QTL GWAS1366588 (human)8e-12body height (VT:0001253)body height (CMO:0000106)1184037415184037416Human
597126459GWAS1222533_Hosteoarthritis, hip, osteoarthritis, knee, total joint arthroplasty QTL GWAS1222533 (human)6e-09osteoarthritis, hip, osteoarthritis, knee, total joint arthroplasty1183932832183932833Human
597355754GWAS1451828_Hbody height QTL GWAS1451828 (human)4e-42body height (VT:0001253)body height (CMO:0000106)1183965546183965547Human
597355755GWAS1451829_Hbody height QTL GWAS1451829 (human)6e-77body height (VT:0001253)body height (CMO:0000106)1183991603183991604Human
597355756GWAS1451830_Hbody height QTL GWAS1451830 (human)2e-131body height (VT:0001253)body height (CMO:0000106)1184022177184022178Human
597106273GWAS1202347_Hbody height QTL GWAS1202347 (human)0.000004body height (VT:0001253)body height (CMO:0000106)1184033740184033741Human
597112992GWAS1209066_Hosteoarthritis, hip QTL GWAS1209066 (human)6e-10osteoarthritis, hip1183937111183937112Human
597355757GWAS1451831_Hbody height QTL GWAS1451831 (human)7e-35body height (VT:0001253)body height (CMO:0000106)1184026220184026221Human
597285921GWAS1381995_HBMI-adjusted hip circumference QTL GWAS1381995 (human)1e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)1184019972184019973Human
597343011GWAS1439085_HBack pain QTL GWAS1439085 (human)2e-11Back pain1183974675183974676Human
597285920GWAS1381994_HBMI-adjusted hip circumference QTL GWAS1381994 (human)1e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)1184016669184016670Human
597036780GWAS1132854_Hhippocampal volume QTL GWAS1132854 (human)0.0000003hippocampal volume1183941302183941303Human
597062571GWAS1158645_Hbody height QTL GWAS1158645 (human)1e-08body height (VT:0001253)body height (CMO:0000106)1184037415184037416Human
597268711GWAS1364785_HBMI-adjusted waist circumference QTL GWAS1364785 (human)8e-13body size trait (VT:0100005)1184019883184019884Human

Markers in Region
SHGC-76043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,904,998 - 183,905,131UniSTSGRCh37
Build 361182,171,621 - 182,171,754RGDNCBI36
Celera1157,015,916 - 157,016,049RGD
Cytogenetic Map1q25UniSTS
HuRef1155,140,739 - 155,140,872UniSTS
TNG Radiation Hybrid Map187347.0UniSTS
GeneMap99-GB4 RH Map1640.63UniSTS
GeneMap99-GB4 RH Map1639.22UniSTS
Whitehead-RH Map1796.0UniSTS
NCBI RH Map11573.0UniSTS
D1S1769E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,899,022 - 183,899,202UniSTSGRCh37
Build 361182,165,645 - 182,165,825RGDNCBI36
Celera1157,009,942 - 157,010,122RGD
Cytogenetic Map1q25UniSTS
HuRef1155,134,764 - 155,134,944UniSTS
GeneMap99-GB4 RH Map1639.22UniSTS
NCBI RH Map11573.4UniSTS
SHGC-86155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,956,052 - 183,956,277UniSTSGRCh37
Build 361182,222,675 - 182,222,900RGDNCBI36
Celera1157,066,985 - 157,067,210RGD
Cytogenetic Map1q25UniSTS
HuRef1155,191,808 - 155,192,033UniSTS
TNG Radiation Hybrid Map187329.0UniSTS
TNG Radiation Hybrid Map187359.0UniSTS
RH122702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,944,784 - 183,945,060UniSTSGRCh37
Build 361182,211,407 - 182,211,683RGDNCBI36
Celera1157,055,714 - 157,055,990RGD
Cytogenetic Map1q25UniSTS
HuRef1155,180,534 - 155,180,810UniSTS
TNG Radiation Hybrid Map187363.0UniSTS
D1S1821E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,899,036 - 183,899,227UniSTSGRCh37
Build 361182,165,659 - 182,165,850RGDNCBI36
Celera1157,009,956 - 157,010,147RGD
Cytogenetic Map1q25UniSTS
HuRef1155,134,778 - 155,134,969UniSTS
SHGC-142028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371184,002,914 - 184,003,192UniSTSGRCh37
Build 361182,269,537 - 182,269,815RGDNCBI36
Celera1157,113,849 - 157,114,127RGD
Cytogenetic Map1q25UniSTS
HuRef1155,238,674 - 155,238,952UniSTS
TNG Radiation Hybrid Map187321.0UniSTS
SHGC-148815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,911,953 - 183,912,271UniSTSGRCh37
Build 361182,178,576 - 182,178,894RGDNCBI36
Celera1157,022,876 - 157,023,194RGD
Cytogenetic Map1q25UniSTS
HuRef1155,147,698 - 155,148,016UniSTS
TNG Radiation Hybrid Map187351.0UniSTS
D1S3425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,898,995 - 183,899,244UniSTSGRCh37
Build 361182,165,618 - 182,165,867RGDNCBI36
Celera1157,009,915 - 157,010,164RGD
Cytogenetic Map1q25UniSTS
HuRef1155,134,737 - 155,134,986UniSTS
TNG Radiation Hybrid Map187355.0UniSTS
GeneMap99-GB4 RH Map1640.63UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11573.0UniSTS
SHGC-156106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,911,671 - 183,911,770UniSTSGRCh37
Build 361182,178,294 - 182,178,393RGDNCBI36
Celera1157,022,594 - 157,022,693RGD
Cytogenetic Map1q25UniSTS
HuRef1155,147,416 - 155,147,515UniSTS
TNG Radiation Hybrid Map187351.0UniSTS
SHGC-76030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,907,110 - 183,907,210UniSTSGRCh37
Build 361182,173,733 - 182,173,833RGDNCBI36
Celera1157,018,029 - 157,018,129RGD
Cytogenetic Map1q25UniSTS
HuRef1155,142,852 - 155,142,952UniSTS
TNG Radiation Hybrid Map187338.0UniSTS
GeneMap99-GB4 RH Map1639.22UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2416 2788 2242 4964 1703 2310 3 602 1806 444 2265 7099 6318 52 3730 826 1722 1596 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF288389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ477485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA216863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR761966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361927   ⟹   ENSP00000354960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,935,834 - 184,037,728 (-)Ensembl
Ensembl Acc Id: ENST00000367520   ⟹   ENSP00000356490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,937,965 - 183,964,500 (-)Ensembl
Ensembl Acc Id: ENST00000367521   ⟹   ENSP00000356491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,935,837 - 183,946,618 (-)Ensembl
Ensembl Acc Id: ENST00000486375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,929,889 - 183,936,924 (-)Ensembl
Ensembl Acc Id: ENST00000649786   ⟹   ENSP00000497601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,929,854 - 184,037,729 (-)Ensembl
RefSeq Acc Id: NM_001303420   ⟹   NP_001290349
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,929,662 - 184,037,728 (-)NCBI
CHM1_11185,321,459 - 185,429,561 (-)NCBI
T2T-CHM13v2.01183,289,012 - 183,400,897 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001303421   ⟹   NP_001290350
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,935,834 - 184,037,728 (-)NCBI
CHM1_11185,327,635 - 185,429,561 (-)NCBI
T2T-CHM13v2.01183,295,184 - 183,400,897 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015101   ⟹   NP_055916
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,935,834 - 184,037,728 (-)NCBI
GRCh371183,898,988 - 184,006,904 (-)NCBI
Build 361182,171,589 - 182,273,486 (-)NCBI Archive
Celera1157,015,884 - 157,117,798 (-)RGD
HuRef1155,140,707 - 155,242,623 (-)ENTREZGENE
CHM1_11185,327,635 - 185,429,561 (-)NCBI
T2T-CHM13v2.01183,295,184 - 183,400,897 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055916   ⟸   NM_015101
- Peptide Label: isoform 1precursor
- UniProtKB: Q8IYK4 (UniProtKB/Swiss-Prot),   O60327 (UniProtKB/Swiss-Prot),   Q9BZR0 (UniProtKB/Swiss-Prot),   B4DF84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290349   ⟸   NM_001303420
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A3B3IT37 (UniProtKB/TrEMBL),   B4DF84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290350   ⟸   NM_001303421
- Peptide Label: isoform 3
- UniProtKB: B3KT92 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497601   ⟸   ENST00000649786
Ensembl Acc Id: ENSP00000354960   ⟸   ENST00000361927
Ensembl Acc Id: ENSP00000356490   ⟸   ENST00000367520
Ensembl Acc Id: ENSP00000356491   ⟸   ENST00000367521

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYK4-F1-model_v2 AlphaFold Q8IYK4 1-626 view protein structure

Promoters
RGD ID:6809565
Promoter ID:HG_ACW:5098
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:GLT25D2.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361182,272,161 - 182,272,661 (-)MPROMDB
RGD ID:6785404
Promoter ID:HG_KWN:6516
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   NB4
Transcripts:ENST00000367522
Position:
Human AssemblyChrPosition (strand)Source
Build 361182,273,044 - 182,273,544 (-)MPROMDB
RGD ID:6858366
Promoter ID:EPDNEW_H2348
Type:initiation region
Name:COLGALT2_2
Description:collagen beta(1-O)galactosyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2349  EPDNEW_H2351  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381184,037,727 - 184,037,787EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16790 AgrOrtholog
COSMIC COLGALT2 COSMIC
Ensembl Genes ENSG00000198756 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361927 ENTREZGENE
  ENST00000361927.9 UniProtKB/Swiss-Prot
  ENST00000367520.3 UniProtKB/TrEMBL
  ENST00000367521.5 UniProtKB/TrEMBL
  ENST00000649786 ENTREZGENE
  ENST00000649786.1 UniProtKB/TrEMBL
Gene3D-CATH Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198756 GTEx
HGNC ID HGNC:16790 ENTREZGENE
Human Proteome Map COLGALT2 Human Proteome Map
InterPro Collagen_mod_GT25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23127 UniProtKB/Swiss-Prot
NCBI Gene 23127 ENTREZGENE
OMIM 617533 OMIM
PANTHER PROCOLLAGEN GALACTOSYLTRANSFERASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROCOLLAGEN-LYSINE,2-OXOGLUTARATE 5-DIOXYGENASE/GLYCOSYLTRANSFERASE 25 FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_tranf_2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25606 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IT37 ENTREZGENE, UniProtKB/TrEMBL
  B3KT92 ENTREZGENE, UniProtKB/TrEMBL
  B4DF84 ENTREZGENE, UniProtKB/TrEMBL
  GT252_HUMAN UniProtKB/Swiss-Prot
  O60327 ENTREZGENE
  Q5SXQ3_HUMAN UniProtKB/TrEMBL
  Q5SXQ5_HUMAN UniProtKB/TrEMBL
  Q8IYK4 ENTREZGENE
  Q9BZR0 ENTREZGENE
UniProt Secondary O60327 UniProtKB/Swiss-Prot
  Q9BZR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 COLGALT2  collagen beta(1-O)galactosyltransferase 2  GLT25D2  glycosyltransferase 25 domain containing 2  Symbol and/or name change 5135510 APPROVED